ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1024G>A (p.Val342Met)

gnomAD frequency: 0.00002  dbSNP: rs759487369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323726 SCV001514655 uncertain significance Leukocyte adhesion deficiency 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 342 of the ITGB2 protein (p.Val342Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs759487369, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002546105 SCV003733373 uncertain significance Inborn genetic diseases 2021-12-13 criteria provided, single submitter clinical testing The c.1024G>A (p.V342M) alteration is located in exon 9 (coding exon 8) of the ITGB2 gene. This alteration results from a G to A substitution at nucleotide position 1024, causing the valine (V) at amino acid position 342 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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